Table 2 Characteristics and types of mutations of the 11 genes responsible for the different subgroups of the mucopolysaccharidoses (MPS)a
From: Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
| Â | MPS IH/S | MPS II | MPS IIIA | MPS IIIB | MPS IIIC | MPS IIID | MPS IVA | MPS IVB | MPS VI | MPS VII | MPS IX |
|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | |||||||||||
 Name | α-l-Iduronidase | Iduronate 2-sulphatase | Heparan-N- sulphatase | α-N-acetyl-d-glucosaminidase | Heparan-α-glucosaminide N-acetyltransferase | Glucosamine (N-acetyl)-6-sulphatase | Galactosamine (N-acetyl)-6-sulphate sulphatase | β-Galactosi-dase | Aryl-sulphatase B | β-glucuroni-dase | Hyalurono-glucosami-nidase 1 |
 Gene symbol | IDUA | IDS | SGSH | NAGLU | HGSNAT | GNS | GALNS | GLB1 | ARSB | GUSB | HYAL1 |
 OMIM # | 252800 | 300823 | 605270 | 609701 | 610453 | 607664 | 612222 | 611458 | 611542 | 611499 | 607071 |
 Chr locus | 4p16.3 | Xq28 | 17q25.3 | 17q21 | 8p11.1 | 12q14 | 16q24.3 | 3p21.33 | 5q11-q13 | 7q21.11 | 3p21.3-p21.2 |
Mutation type | |||||||||||
 Missense/nonsense | 148 | 313 | 111 | 114 | 38 | 7 | 248 | 165 | 147 | 53 | 1 |
 Regulatory | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
 Splicing | 39 | 59 | 3 | 6 | 14 | 4 | 32 | 16 | 11 | 5 | 0 |
 Small deletions (< 21 bp) | 40 | 117 | 17 | 25 | 5 | 5 | 32 | 17 | 24 | 4 | 1 |
 Small insertions (< 21 bp) | 16 | 49 | 9 | 13 | 5 | 4 | 5 | 12 | 6 | 0 | 0 |
 Small indels | 3 | 14 | 1 | 1 | 1 | 1 | 2 | 2 | 2 | 0 | 0 |
 Gross deletions (> 20 bp) | 6 | 52 | 3 | 4 | 3 | 2 | 9 | 1 | 6 | 1 | 0 |
 Gross insertions (> 20 bp) | 1 | 4 | 1 | 3 | 1 | 0 | 2 | 2 | 0 | 0 | 0 |
 Complex rearrangements | 3 | 20 | 0 | 0 | 1 | 2 | 3 | 0 | 0 | 0 | 1 |
 Total | 257 | 628 | 145 | 166 | 68 | 25 | 333 | 215 | 197 | 64 | 3 |